abnormal node of ranvier morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon (Mammalian Phenotype Ontology, MP_0010732)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010732
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Genes

3 gene mutations causing the abnormal node of ranvier morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CNTNAP1 contactin associated protein 1
HSPG2 heparan sulfate proteoglycan 2
SH3TC2 SH3 domain and tetratricopeptide repeats 2